What is Triploidy Syndrome?
Triploidy Syndrome is an extremely rare pathology of the chromosomes in which the affected individual instead of having 46 chromosomes which is the usual norm has 69 chromosomes in each cell. The extra set of chromosomes comes from either the father or the mother at the time of conception.
Infants with Triploidy Syndrome usually are not able to make to the term, and are lost to miscarriage much earlier in pregnancy. Even if infants makes it to term, they do not survive more than a few days of life as a result of Triploidy Syndrome.
There have been extremely rare cases of a few infants living till adulthood but their lives are severely compromised with intellectual delays, problems with learning, seizures, hearing loss and other abnormalities which make them totally dependent on others.
The infants who have survived, have the mosaic form of Triploidy Syndrome in which some cells have normal set of 46 chromosomes whereas some cells have extra set of chromosomes in each cell. Multiple birth defects are the hallmark of an infant is affected with Triploidy Syndrome and survives.
What Are The Causes of Triploidy Syndrome?
The cause of Triploidy Syndrome by researchers is believed to be fertilization of an egg by two sperms. Under normal circumstances, at the time of fertilization the egg is fertilized by one sperm only.
When the egg gets fertilized by two sperms then the problem of extra sets of chromosomes being formed in the infant develops resulting in Triploidy Syndrome.
Triploidy syndrome can also be caused by a sperm which has additional set of chromosomes which fertilizes an egg or vice versa meaning the egg that is being fertilized has an extra set of chromosomes but the sperm that fertilizes the egg has normal set of chromosomes. There has been no familial link to the development of Triploidy Syndrome.
What Are The Symptoms of Triploidy Syndrome?
As stated, most of the infants with Triploidy Syndrome fail to reach their term and are lost to miscarriages. Some infants who reach their term are born with significant birth defects to include defects in the heart, brain, kidney, and almost all the important organs of the body such that they are not able to survive more than a few days of life.
There have been some cases where infants with Triploidy Syndrome have gone on to live till adulthood but in such cases the individual will have abnormal facial features with widely spaced eyes, smaller than normal jaw, cleft lip.
Additionally, the individual may have twisted intestines and problems with gallbladder. There may also be intellectual disability as the individual will have profound learning disability and will require assistance with almost all activities of daily living.
Studies suggest that pregnancies occurring after oral contraceptives are discontinued are predisposed to Triploidy Syndrome. Females with a history of frequent repeated miscarriages are also predisposed to having a baby with Triploidy Syndrome.
How is Triploidy Syndrome Diagnosed?
A prenatal ultrasound of the fetus may show abnormal features which are specific for Triploidy Syndrome. Here will be significantly low amniotic fluid which is a major characteristic for Triploidy Syndrome. A chromosome analysis during pregnancy may clearly show the presence of additional set of chromosomes which will confirm the diagnosis of Triploidy Syndrome.
How is Triploidy Syndrome Treated?
There is no cure for Triploidy Syndrome. The infant who make it into adulthood need symptomatic and supportive treatment. Anticonvulsants will be required to control seizures.
Additionally, speech and occupational therapist will be required to make the patient as independent as possible so that he or she may put his or her thoughts across. Certain cardiac defects may require surgery for correction. Apart from this, treatment is only supportive for Triploidy Syndrome.
